Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

International Journal of Cardiology

Volumn 165, Issue 2, 2013, Pages 314-321

  Renard, Marjolijn ^a   Callewaert, Bert ^a   Baetens, MacHteld ^a   Campens, Laurence ^a   MacDermot, Kay ^b   Fryns, Jean Pierre ^c   Bonduelle, Maryse ^d   Dietz, Harry C ^e   Gaspar, Isabel Mendes ^f   Cavaco, Diogo ^f   Stattin, Eva Lena ^g   Schrander Stumpel, Constance ^h   Coucke, Paul ^a   Loeys, Bart ^a,i   De Paepe, Anne ^a   De Backer, Julie ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b ST MARK S HOSPITAL   (United Kingdom)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f HOSPITAL EGAS MONIZ   (Portugal)

^g UMEÅ UNIVERSITY   (Sweden)

^h MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Myosin heavy chain 11; Smooth muscle actin; TGF signaling; Thoracic aortic aneurysm

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA; ALPHA SMOOTH MUSCLE ACTIN; ALPHA2 SMOOTH MUSCLE ACTIN; FIBRILLIN 1; GENOMIC DNA; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 11; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; UNCLASSIFIED DRUG;

ACTA2 GENE; ADULT; AGED; AORTA DISSECTION; ARTICLE; BLOOD VESSEL BIOPSY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MYH11 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PROCESSING; SIGNAL TRANSDUCTION; TGFBR1 GENE; TGFBR2 GENE; THORACIC AORTA ANEURYSM; THORACIC AORTA ANEURYSM DISSECTION; UPREGULATION; ADOLESCENT; AORTA DISEASE; COHORT ANALYSIS; CONTROLLED STUDY; FAMILY HISTORY; FBN1 GENE; GENETIC ASSOCIATION; HUMAN TISSUE; MIDDLE AGED; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PATENT DUCTUS ARTERIOSUS; PROTEIN ANALYSIS; SEQUENCE ANALYSIS; SPLICING DEFECT; VERY ELDERLY;

ACTINS; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANEURYSM, DISSECTING; AORTIC ANEURYSM, THORACIC; COHORT STUDIES; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOSIN HEAVY CHAINS; PEDIGREE; SIGNAL TRANSDUCTION; TRANSFORMING GROWTH FACTOR BETA; UP-REGULATION;

EID: 84876664370     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2011.08.079     Document Type: Article

References (34)

1. D.E. Lilienfeld, P.D. Gunderson, J.M. Sprafka, and C. Vargas Epidemiology of aortic aneurysms: I. Mortality trends in the United States, 1951 to 1981 Arteriosclerosis 7 1987 637 643
2. D.M. Milewicz, K. Michael, N. Fisher, J.S. Coselli, T. Markello, and A. Biddinger Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms Circulation 94 1996 2708 2711
3. A. Biddinger, M. Rocklin, J. Coselli, and D.M. Milewicz Familial thoracic aortic dilatations and dissections: a case control study J Vasc Surg 25 1997 506 511
4. H. Pannu, V.T. Fadulu, and J. Chang Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections Circulation 112 2005 513 520
5. D. Guo, S. Hasham, and S.Q. Kuang Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14 Circulation 103 2001 2461 2468
6. C.J. Vaughan, M. Casey, and J. He Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder Circulation 103 2001 2469 2475
7. D.C. Guo, E.S. Regalado, and C. Minn Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection Circ Cardiovasc Genet 4 2011 36 42
8. L. Zhu, R. Vranckx, and P. Khau Van Kien Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus Nat Genet 38 2006 343 349
9. H. Pannu, V. Tran-Fadulu, and C.L. Papke MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II Hum Mol Genet 16 2007 2453 2462
10. D.C. Guo, H. Pannu, and V. Tran-Fadulu Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections Nat Genet 39 2007 1488 1493
11. D.C. Guo, C.L. Papke, and V. Tran-Fadulu Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease Am J Hum Genet 84 2009 617 627
12. E. Disabella, M. Grasso, and F.I. Gambarin Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2) Heart 97 2011 321 326
13. S. Hoffjan, S. Waldmuller, and W. Blankenfeldt Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections Eur J Hum Genet: EJHG 2011
14. H. Morisaki, K. Akutsu, and H. Ogino Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD) Hum Mutat 30 2009 1406 1411
15. E.H. Yoo, S.H. Choi, and S.Y. Jang Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation Ann Clin Lab Sci 40 2010 278 284
16. D.M. Milewicz, J.R. Ostergaard, and L.M. Ala-Kokko De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction Am J Med Genet A 152A 2010 2437 2443
17. L. Wang, D.C. Guo, and J. Cao Mutations in myosin light chain kinase cause familial aortic dissections Am J Hum Genet 87 2010 701 707
18. I.M. van de Laar, R.A. Oldenburg, and G. Pals Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis Nat Genet 43 2011 121 126
19. B.L. Loeys, H.C. Dietz, and A.C. Braverman The revised Ghent nosology for the Marfan syndrome J Med Genet 47 2010 476 485
20. L.R. Otterbein, P. Graceffa, and R. Dominguez The crystal structure of uncomplexed actin in the ADP state Science 293 2001 708 711
21. C. Roder, V. Peters, and H. Kasuya Analysis of ACTA2 in European Moyamoya disease patients Eur J Paediatr Neurol 15 2011 117 122
22. G.K. Owens Regulation of differentiation of vascular smooth muscle cells Physiol Rev 75 1995 487 517
23. B.L. Loeys, U. Schwarze, and T. Holm Aneurysm syndromes caused by mutations in the TGF-beta receptor N Engl J Med 355 2006 788 798
24. E.R. Neptune, P.A. Frischmeyer, and D.E. Arking Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome Nat Genet 33 2003 407 411
25. M. Renard, T. Holm, and R. Veith Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency Eur J Hum Genet: EJHG. 18 2010 895 901
26. B. Callewaert, M. Renard, and V. Hucthagowder New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations Hum Mutat 2011
27. F. Lin, and X. Yang TGF-beta signaling in aortic aneurysm: another round of controversy J Genet Genomics 37 2010 583 591
28. P. Singh, C. Carraher, and J.E. Schwarzbauer Assembly of fibronectin extracellular matrix Annu Rev Cell Dev Biol 26 2010 397 419
29. L. Sabatier, D. Chen, and C. Fagotto-Kaufmann Fibrillin assembly requires fibronectin Mol Biol Cell 20 2009 846 858
30. Q. Chen, P. Sivakumar, and C. Barley Potential role for heparan sulfate proteoglycans in regulation of transforming growth factor-beta (TGF-beta) by modulating assembly of latent TGF-beta-binding protein-1 J Biol Chem 282 2007 26418 26430
31. S.L. Dallas, P. Sivakumar, and C.J. Jones Fibronectin regulates latent transforming growth factor-beta (TGF beta) by controlling matrix assembly of latent TGF beta-binding protein-1 J Biol Chem 280 2005 18871 18880
32. A.K. Kantola, J. Keski-Oja, and K. Koli Fibronectin and heparin binding domains of latent TGF-beta binding protein (LTBP)-4 mediate matrix targeting and cell adhesion Exp Cell Res 314 2008 2488 2500
33. P. Sivakumar, A. Czirok, B.J. Rongish, V.P. Divakara, Y.P. Wang, and S.L. Dallas New insights into extracellular matrix assembly and reorganization from dynamic imaging of extracellular matrix proteins in living osteoblasts J Cell Sci 119 2006 1350 1360
34. J.P. Habashi, D.P. Judge, and T.M. Holm Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome Science 312 2006 117 121